ClinVar Miner

List of variants studied for PURA Syndrome

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005859.5(PURA):c.116dup (p.Gly40fs) rs886041754
NM_005859.5(PURA):c.178G>T (p.Glu60Ter) rs1763041722
NM_005859.5(PURA):c.424dup (p.Ala142fs) rs1581036383
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005859.5(PURA):c.720C>G (p.Tyr240Ter) rs1763053854

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